DOI: 10.7860/JCDR/2013/5845.3499
Case Report
Internal Medicine
Section
Pseudohypoparathyroidism,
Rare Cause of Hypocalcaemia!
Rupal V. Dosi1, Annirudh P. Ambaliya2, Harshal K. Joshi3, Rushad D. Patell4
ABSTRACT
Pseudohypoparathyroidism is a rare disorder which is charac­terized by end organ parathormone resistance, which causes hypocalcaemia,
hyperphosphataemia and high parathormone levels. We are reporting here case of a young male who had symptoms of chronic hypocalcaemia,
with a positive Trousseau’s and Chvostek’s sign on examination, without any features of Albright’s hereditary osteodystrophy. Lab
investigations revealed low calcium, high phosphate and high PTH levels. The patient was diagnosed as having Pseudohypoparathyroidism
and he was treated successfully with Calcium and Vitamin D supplements.
Key words: Tetany, Hypocalcaemia, Pseudohypoparathyroidism
Case History
A 27-year-old male presented with intermittent spasms of both
hands and feet, along with perioral and acral parasthaesias which he
had since the past 10 years. Around 2 years back, in 2010, patient
was diagnosed and unsatisfactorily treated for cervical dystonia.
On examination, his vitals were found to be stable. Trousseau’s
and Chvostek sign was present. No distinctive skeletal or facial
dysmorphism was present. He had a normal height of 168 cm.
On investigation, haemogram, urine examination, random blood
glucose, renal function tests, serum sodium/potassium and liver
function tests showed normal results. Serum calcium level was
decreased, with a total calcium level of 5.1 mg/dl (8.4-10.2) and an
ionised calcium level of 0.64 mmol/L (1.12-1.32). Serum Phosphorus
was high 7.5 mg/dl (2.5-4.5). Serum Magnesium level was noted to
be 1.8 mg/dl (1.6-2.3). Serum PTH (Intact) was high 186.7 pg/ml
(12 to 65). Serum Vitamin D levels were normal (45.9). ECG, chest
X-ray and a whole body skeletal survey showed normal results.
Urinary c-AMP level and Gsα subunit assay were not available.
He was managed initially with Calcium infusions and Vitamin D
supplements. We discharged him on the high dose of oral Calcium
(1gm elemental calcium/day) and Vitamin D (Calcitriol 60,000 IU/
week). After 3 months, the tests were repeated and Total Calcium
level was found to be 7.1 mg/dl (8.4-10.2) and Ionized Calcium level
was found to be 0.82 mmol/L (1.12-1.32). The serum PTH level
was persistently high and despite the patient being asymptomatic,
clinical signs of tetany were still elicitable.
Discussion
Pseudohypoparathyroidism is an uncommon disorder which is
characterized by end organ Parathyroid Hormone (PTH) resist­
ance [1]. In 1942, Fuller Albright first used the term, ‘pseudo­
hypoparathyroidism’ to describe the PTH resistant hypocalcaemia
and hyperphosphataemia, along with features of Albright hereditary
osteodystrophy [2], which included developmental and skeletal
defects. Since then, there has been an increased understanding
of the differences at the levels of signal transduction and genetic
expression [3]. A working classification of the various forms of PHP
has been given in [Table/Fig-1].
Parasthaesias, numbness, tetany and convulsions are common
presentations of severe hypocalcaemia. Classical clinical signs like
Chvostek’s and Trousseau’s sign are useful pointers to the underlying
electrolyte abnormalities. The threat of serious complications like
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bronchospasms, laryngospasms, seizures and arrhythmias points
out that a correct diagnosis and a prompt treatment are of utmost
importance [5, 6].
↓Ca+2
↑PO4-
Urinary
cAMP
response
to PTH
PHP - Ia
YES
↓
PHP – Ib
YES
PHP – II
PPHP
Type
PTH
Gsα
Subunit
Def
Other
hormone
resistance
AHO
↑
YES
YES
YES
↓
↑
NO
NO
YES (few)
YES
NORMAL
↑
NO
NO
No
NO
NORMAL
NORMAL
YES
YES
No
[Table/Fig-1]: Types and features of pseudohypoparathyroidism.
PHP Pseudohypoparathyroidism, Ca+2 Calcium, PO4- Phosphate, PTH Paratharmone
AHO Albrights Hereditary Osteodystrophy.
Treatment of PHP is similar to that of hypoparathyroidism, in the
form of administration of oral Calcium and vitamin D or its analogues,
except that Calcium and vitamin D doses are usually lower [1].
The presence of hypocalcaemia, hyperphosphataemia and high
PTH levels without signs of Albright’s hereditary osteodystrophy,
points to a diagnosis of PHP of type Ib or type II. We treated this
patient with oral Calcium and an active form of a Vitamin D analogue,
and noted a partial clinical and laboratory response. He remains on
close follow up, with a step up of doses and is on serial clinical and
laboratory surveillance.
References
[1] G. Mantovani, “Pseudohypoparathyroidism: diagnosis and treatment. Journal of
Clinical Endocrinology and Metabolism, 2011; 96 (10): 3020–30.
[2] F Albright, CH Burnett, PH Smith, W Parson. “Pseudo-hypoparathyroidismexample of “Seabright-Bantam syndrome”; report of three cases,” Endocrinology,
1942; 30: 922–32.
[3] Levine, MA Pseudohypoparathyroidism: From Bedside to Bench and Back.
J Bone Miner Res. 1999;14: 1255–60.
[4] Parathyroid Hormone Resistance Syndromes. Levine MA. In: Favus MJ, ed.
Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. 4th
ed. Philadelphia, Pa: Lippincott Williams and Wilkins; 1999;230– 35.
[5] Cooper MS, Gittoes NJ. Diagnosis and management of hypocalcaemia. BMJ
2008; 336:1298.
[6] Thakker, RV. Hypocalcemia: Pathogenesis, differential diagnosis, and manage­
ment. In: Primer on the metabolic bone diseases and disorders of mineral
metabolism. American Society of Bone and Mineral Research, sixth edition 2006;
35:213.
Journal of Clinical and Diagnostic Research. 2013 Oct, Vol-7(10): 2288-2289
www.jcdr.net
Rupal V. Dosi et al., Pseudohypoparathyroidism
PARTICULARS OF CONTRIBUTORS:
1.
2.
3.
4.
Additional Professor, Department of Medicine, Medical College Baroda and Shree Sayaji General Hospital, Vadodara, Gujarat, India.
Assistant Professor, Department of Medicine, Medical College Baroda and Shree Sayaji General Hospital, Vadodara, Gujarat, India.
Post Graduate Student, Department of Medicine, Medical College Baroda and Shree Sayaji General Hospital, Vadodara, Gujarat, India.
Senior Resident, Department of Medicine, Medical College Baroda and Shree Sayaji General Hospital, Vadodara, Gujarat, India.
NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING AUTHOR:
Dr. Rushad D. Patell,
32 Alka Society, Akota Vadodara 390020, Gujarat, India.
Phone: 9824048252, E-mail: rushadpatell@gmail.com
Financial OR OTHER COMPETING INTERESTS: None.
Journal of Clinical and Diagnostic Research. 2013 Oct, Vol-7(10): 2288-2289
Date of Submission: Feb 11, 2013
Date of Peer Review: May 08, 2013
Date of Acceptance: Jun 12, 2013
Date of Publishing: Oct 05, 2013
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